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001-es BibID:	BIBFORM039509
Első szerző:	Kupka Zsuzsanna (fül-orr-gégész Németország)
Cím:	Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients / Kupka Susan, Tóth Tímea, Wróbel Maciej, Zeissler Ulrike, Szyfter Witold, Szyfter Krzysztof, Niedzielska Grazyna, Bal Jerzy, Zenner Hans-Peter, Sziklai István, Blin Nikolaus, Pfister Markus
Dátum:	2002
ISSN:	1059-7794
Megjegyzések:	The A1555G mutation in the 12SrRNA gene has been associated with aminoglycoside induced and nonsyndromic sensorineural hearing impairment. In this study we analyzed Hungarian, Polish and German patients with nonsyndromic severe to profound hearing impairment of unknown origin for this mutation. The frequency of the A1555G mutation in the Hungarian hearing impaired population was below 1.8 %. Three out of 125 Polish patients carrying the A1555G mutation were identified. Among German patients one carrier was found (0.7 %) revealing a homoplastic A1555G mutation, whereas no mutation was detected in control individuals with normal hearing (frequency < 0.6%). In summary the frequencies of the A1555G mutation are low in the hearing impaired as well as in the normal population in Hungary, Poland and Germany. Since the importance of this mutation and its relationship with aminoglycoside exposure is not well understood yet, patients with nonsyndromic hearing impairment should be routinely screened for this mutation to avoid aminoglycoside induced hearing impairment due to increased sensitivity of maternal relatives.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Human Mutation. - 19 : 3 (2002), p. 308-309. -
További szerzők:	Tóth Tímea (1974-) (fül-orr-gégész) Wróbel, Maciej Zeissler, Ulrike Szyfter, Witold Szyfter, Krzysztof Niedzielska, Grazyna Bal, Jerzy Zenner, Hans-Peter Sziklai István (1954-) (fül-orr-gégész) Blin, Nikolaus Pfister, Markus
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